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Genetics and Genomic Medicine

The Genetics and Genomic Medicine Research & Teaching Department is a multi-disciplinary group of researchers with an international reputation for research into rare genetic disorders. Our aims are to deliver better diagnostics through identification of novel disease causing genes and accurate disease biomarkers for targeting of therapies. In order to support our powerful genomics and mass spectrometry technology platforms we create and integrate multi-omics data and its healthcare applications. We develop and run trials of novel therapies in rare disease patient cohorts.

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News and events


Thursday, 27 June 2024:ÌýUCL Senior Promotions 2023-24 in GGM

Dr Haiyan Zhou (Molecular Basis of Rare Diseases) to Professor of Genetic Medicine

Dr Naresh Hanchate (Molecular Basis of Rare Diseases) toÌýPrincipal Research Fellow


Tuesday, 18 June 2024:ÌýÌýBlood test could predict Parkinson’s seven years before symptoms

A team of researchers, led by scientists at »Ê¼Ò»ªÈË including senior authorÌýProfessor Kevin Mills, co-authorÌýDr Jenny Hällqvist and GGM colleagues,Ìýand University Medical Center Goettingen, Germany, have developed a simple blood test that uses artificial intelligence (AI) to predict Parkinson’s up to seven years before the onset of symptoms.


Monday, 10 June 2024:ÌýÌýNew blood test could prevent sudden child deaths caused by heart condition

A new blood test that could identify children with a potentially fatal heart condition has been developed by researchers at »Ê¼Ò»ªÈË and Great Ormond Street Hospital (GOSH), including co-author Professor Kevin Mills (GGM).


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Department job opportunities


Research Fellow - closing date 18/09/2024

This is an excellent opportunity to work on a newly funded UKRI Medical Research Council (MRC) project. The successful applicant will be working as part of a newly set up group led by Dr Naresh Hanchate, who is a UCL Excellence Fellow and the holder of the MRC Neuroscience and Mental Health New Investigator Award. The aim of the Hanchate group is to investigate the impact of early life adversities on the brain circuitry, in particular, those that control physiological stress responses. The group employs newly developed genomic technologies (Connect-seq, Nuc-connect-seq) to profile single-cell transcriptomes of individual neural circuit components to understand the impacts of early life adversities. The postholder will perform murine studies, including maintenance of transgenic lines, behavioral and physiological studies, surgical manipulations for stereotaxic delivery of viruses intracranially, preparation of single-cell cDNA libraries, sequencing, and analyses or arrange work with UCL Genomics, supervision of undergraduate and graduate students. The post is funded until 31 Jan 2026 in the first instance and the salary range for this post is £42,099 - £46,732 per annum.

Research Assistant - closing date 22/09/2024

The successful applicant will have the exciting opportunity to investigate a novel way to target the blood brain barrier (BBB) for increased access for systemically administered larger therapeutic access to the central nervous system (CNS), with proof-of-concept work in vitro and in vivo, alongside targeting a rare neurodegenerative disease for downstream translational application, using cutting-edge models and tools. This project will provide a novel proof-of-concept data. The project will use mRNA-LNP technology to transiently alter BBB permeability in vitro in different models. The successful applicant will use implement various standard laboratory techniques such as RT-qPCR, in-cell western, western blot, immunocytochemistry alongside cell viability and cellular toxicity assays to assess efficacy and toxicity of the mRNA-LNPs. The project will further generate proof-of-concept in vivo. Please see the job description for more details.

Research Fellow x2 - closing date 01/10/2024

Applications are invited to fill two Post-doctoral Research Fellow positions in an exciting research programme based at the UCL Great Ormond Street Institute of Child Health and the UCL EGA Institute for Women’s Health. The aim of this research is to develop a novel gene therapy treatment to ameliorate the disease phenotype of a well characterised transgenic mouse model of mitochondrial disease. The successful candidate will contribute to the following aspects of the research programme: In vitro testing of codon-optimised transgene sequences in cell lines, AAV vector production, in vivo testing of AAV gene therapy treatment for a well-characterised transgenic mouse model of mitochondrial disease Evaluation of efficacy of viral gene therapy in rescuing mitochondrial dysfunction through behavioural and tissue analyses including qPCR, Western blot and immunohistochemistry on mouse tissues, Establishing new disease outcome measures. Please check JD for detailed information.


Platform Technologies

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